Genetics Northern California

Regional Metabolic Program

The Regional Metabolic Program is a multidisciplinary program designed to address the needs of Kaiser Permanente members with metabolic disorders. Our  goal is to optimize the physical, social, and psychological well-being of our patients by coordinating their care. We follow about 250 patients of all ages and offer 25 to 30 clinics every year at different Kaiser Permanente locations: Oakland, Santa Jose, Sacramento, and Vallejo.

Meet the Regional Metabolic Team
Program Services
Types of Clinics
Metabolic Disorders
Genetics of Metabolic Disorders
Genetic Testing for Metabolic Disorders
Prenatal Testing
Resources for Families

Meet the Regional Metabolic Team
The Regional Metabolic Program team includes metabolic geneticists, genetic counselors, dietitians, pediatric neurologists, social workers, a nurse, and a psychologist. The program is run by program coordinators who provide case management. In addition to organizing clinic days, the coordinators follow your care between visits and make sure the clinic recommendations are acted upon in a timely manner. The coordinators are also available throughout the year to help patients and their families with any needs, questions, or concerns that arise between clinics as well as to provide emotional support.

Regional Metabolic Program phone: (510) 752-5101
Regional Metabolic Program fax: (510) 752-6367 

Program Coordinators  
    Maryann Campbell, RN, MS, CNS
    Andrea Curran, MS, RD 
    Shana Maloney, MS, RD
    Kristine Miu, RN  
    Joyce Wong, MS, RD 

Medical Geneticists  
    Joann Bergoffen, MD 
    Sushma Guptha, MD        
    Mark Lipson, MD  
    Bryce Mendelsohn, MD, PhD
    Billur Moghoddam, MD  
    Kamer Tezcan, MD  
    David Witt, MD

Social Workers 
     Josey Baker, MSW  
     Chris Camozzi, MSW  
     Eleanor Tadina-Siau, MSW

Secretary: Sirita Bowden (510) 752-5101

Program Services
Patients are referred to the Regional Metabolic Prorgram after a metabolic disorder is diagnosed or suspected. When we get a referral, one of our program coordinators contacts you to arrange Regional Metabolic services, assess the individual or family needs, and make an appointment.

    Case Management involves: 
        1) working together to create a personalized treatment plan
        2) coordinating medical tests and appointments 
        3) providing support for emotional and social needs related to the condition 
        4) helping you find ways to follow the medical recommendations

Types of Clinics
The Regional Metabolic Program offers two types of clinics: Regional Clinics and Satellite Clinics

Regional Clinics : These clinics are only offered 3-4 times a year at Kaiser Permanente at the Oakland Medical Center facility. Appointments are typically reserved for patients with more complicated conditions. Geneticists from the entire Region attend this clinic to provide their expertise in the diagnoses and treatment of metabolic clinic patients. After each clinic, the team meets together in a post-clinic conference to discuss their findings and make recommendations.

Satellite Clinics : Satellite clinics are offered at four different Kaiser facilities: Oakland, San Jose, Sacramento, and Vallejo. throughout the year. These clinics offer an opportunity for clients to be seen closer to home and more frequently than Regional Clinics would allow. The team meets after each clinic for a post-clinic conference to discuss their findings and make recommendations.

What to expect on clinic day

Metabolic Disorders
There are many different metabolic disorders. These disorders share one feature in common: they all interfere in some part of normal body chemistry. Many patients are referred to the Regional Metabolic Program after being identified by the California State Newborn Screening (NBS) Program. The NBS program has been expanded to include many metabolic disorders. For more detailed information about the California NBS Program, please see the California Department of Health Services Newborn Screening Program website. For information on your specific metabolic condition visit the Genetic Home Reference website and find the name of the condition

Genetics of Metabolic Disorders
AR InheritanceMost metabolic conditions are inherited as an autosomal recessive condition. In order for a child to be born with an autosomal recessive condition, both parents must carry a non-working copy of the involved gene. Although each parent carries one non-working copy of the gene, they do not have the disorder themselves. This is because they each also carry one "working" gene. The working copy of the gene keeps their metabolism working normally. People with one working and one non-working gene are called "carriers" for a recessive condition. Most carriers of metabolic disorders are perfectly healthy and normal. There is no easy way to predict who is a carrier of one of these disorders. For most children with a metabolic disorder, there is no previous history of the condition in the family.  

Genetic Testing for Metabolic Disorders
Metabolic disorders are usually diagnosed by urine or blood testing that look for changes in the body chemistry. Genetic testing is different. This type of testing looks for the genetic changes (mutations) that caused the metabolic disorder. Genetic testing is usually done with a blood test. The person with the metabolic disorder is tested first, before we can test any one else in the family.  

Prenatal Testing 
Special genetic testing is needed to find metabolic disorders during pregnancy; but usually there is no clue to look for a specific disorder before a child is born. Routine prenatal testing does not look for these rare conditions. However, after the birth of a child with a metabolic disorder, prenatal diagnosis is usually possible.  Testing for a metabolic disorder can be done during pregnancy when the family meets both of the following criteria:

  1. The diagnosis of a metabolic disorder in the family has been confirmed. 

  2. The genetic mutations that caused the disorder in the family have been identified.

Resources for families

Metabolic Diets
3-day diet record
Diets for Inborn Errors of Metabolism (pdf) - A four page handout covering how to measure foods, metabolic formulas, ordering metabolic medications, and low-protein diets.
Home Testing (pdf) - Instruction sheet on how to do blood testing at home to monitor your metabolic condition.

Teacher Guides
A Teacher's Guide to Glycogen Storage Disease, Type 3 (pdf)
A Teacher's Guide to MCADD (Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency) (pdf)
A Teacher's Guide to PKU (pdf)

PKU Support Resources - National PKU Alliance: Support organization for families and individuals with PKU. - California Coalition for PKU and allied disorder: Volunteer suuport group in California for families and individiuals with PKU - PKU News: News and information about PKU - How Much Phe: Online site to help calculate the PHE content of foods.

Suuport Resources for Other Conditions
Fatty Acid Oxidation Disorders -
Galactosemia -
Glycogen Storage Disordres -
Organic Acidemias -
Urea Cycle Disorders -

California Children's Services (CCS) - A California State program that helps children with certain diseases or health problems. CCS may help cover certain costs related to special health problems for patients with MediCal coverage. 
Click here to learn more about CCS
Click here to apply for CCS 

Last reviewed: April 2020
Reviewed by: Regional Metabolic Program Coordinators